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Pre- and postnatal diagnosis of glycogen storage disease

  • Chapter
Inherited Disorders of Carbohydrate Metabolism

Abstract

Glycogen storage disease (GSD) exists when the concentration or structure of glycogen is abnormal in any tissue of the body due to an inherited disease. Hepatic glycogen concentration is often decreased during starvation, haemodynamic shock, in Reye’s syndrome, or at autopsy, and increased in hypoglycaemia or diabetes. Abnormal glycogen concentration in these situations is not accepted as evidence for GSD since it is either an artifact (autopsy), is acquired and not inherited (Reye’s syndrome) or is secondary to a different disease (diabetes). The syndrome of GSD can be divided further following the rule first suggested by Gerti T. Cori1 that each newly recognized enzymatic defect be assigned a new type. If the defective enzyme is not known, typing should still be done if it is based on distinct clinical and biochemical features. Indeed, in Dr Cori’s original classification of four types, generalized glycogenosis was listed as GSD II although the associated defect of acid α-glucosidase had not yet been described1. The resulting focus on the unique clinical features of GSD II facilitated the diagnosis of the disease in additional patients.

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Authors
  1. G. Hug
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Editors and Affiliations

  1. Bristol Royal Hospital for Sick Children, Bristol, UK

    D. Burman

  2. Department of Clinical Chemistry, Southmead Hospital, Bristol, UK

    J. B. Holton

  3. Clinical Chemistry Department, Bristol Maternity Hospital, Bristol, UK

    C. A. Pennock

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© 1980 The Society for the Study of Inborn Errors of Metabolism

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Hug, G. (1980). Pre- and postnatal diagnosis of glycogen storage disease. In: Burman, D., Holton, J.B., Pennock, C.A. (eds) Inherited Disorders of Carbohydrate Metabolism. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-9215-3_20

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  • DOI: https://doi.org/10.1007/978-94-009-9215-3_20

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-009-9217-7

  • Online ISBN: 978-94-009-9215-3

  • eBook Packages: Springer Book Archive

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